PSACH
MCID: PSD012
MIFTS: 51

Pseudoachondroplasia (PSACH) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudoachondroplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pseudoachondroplasia:

Name: Pseudoachondroplasia 52 11 23 48 24 25 54 70 12 13 68
Pseudoachondroplastic Dysplasia 11 48 24 25 54 70
Psach 23 48 24 25 70 50
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 48 25
 
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 11 48
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 48 54
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 70 27

Characteristics:

Orphanet epidemiological data:

54
pseudoachondroplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
pseudoachondroplasia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is 100%...


Classifications:



External Ids:

OMIM52 177170
Disease Ontology11 DOID:0080047
Orphanet54 ORPHA750
MESH via Orphanet40 C535819
UMLS via Orphanet69 C0410538
ICD10 via Orphanet31 Q77.8
MedGen37 C0410538
MeSH39 D010009

Summaries for Pseudoachondroplasia

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NIH Rare Diseases:48 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards based summary: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to pseudoachondroplastic dysplasia 2 and multiple epiphyseal dysplasia, and has symptoms including joint laxity, joint laxity and ulnar deviation of the wrist. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways are Gastric Cancer Network 2 and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, and related mouse phenotypes are Increased gamma-H2AX phosphorylation and limbs/digits/tail.

Disease Ontology:11 An osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism.

Genetics Home Reference:25 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM:52 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature,... (177170) more...

UniProtKB/Swiss-Prot:70 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Wikipedia:71 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

GeneReviews for NBK1487

Related Diseases for Pseudoachondroplasia

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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplastic dysplasia 210.8
2multiple epiphyseal dysplasia10.4
3achondrogenesis ib10.1COMP, SLC26A2
4acromesomelic dysplasia10.1COL9A2, SLC26A2
5cerebral palsy10.1ACAN, COMP
6coronary heart disease 410.1ACAN, SLC26A2
7epiphyseal dysplasia, multiple, with myopia and deafness10.1ACAN, COMP
8vulvar sarcoma10.1ACAN, COMP
9cerebral beriberi10.1COL9A2, COL9A3
10neuropathy, distal hereditary motor, type iia10.1COMP, SLC26A2
11slti salem syndrome10.0COMP, MATN3, SLC26A2
12albright's hereditary osteodystrophy10.0ACAN, COMP
13combined oxidative phosphorylation deficiency 210.0ACAN, SLC26A2
14asphyxiating thoracic dystrophy10.0
15skeletal dysplasias10.0
16skeletal dysplasia10.0
17vitelliform macular dystrophy10.0COL9A2, COMP, SLC26A2
18sp7-related osteogenesis imperfecta10.0ACAN, COMP, SLC26A2
19treacher collins syndrome 110.0DCN, SLC26A2
20short stature, optic nerve atrophy, and pelger-huet anomaly10.0ACAN, MATN3
21dentin dysplasia10.0ACAN, COL9A3
22achondroplasia9.9
23bone resorption disease9.9ACAN, COL9A2, COL9A3
24alternating esotropia9.9COL9A1, DCN
25physical disorder9.9ACAN, COL9A2, COL9A3
26onychocytic matricoma9.9ACAN, DCN
27bone structure disease9.9COL9A2, COMP, MATN3, SLC26A2
28pityriasis rubra pilaris9.9COMP, DCN, SLC26A2
29mild hemophilia a9.9COL9A1, COL9A2, COL9A3
30maternally-inherited mitochondrial dystonia9.9COL9A1, COL9A2, COL9A3
31gingival fibromatosis9.9COMP, DCN, SLC26A2
32charcot-marie-tooth disease type 59.9COL9A1, COL9A2, COL9A3
33stickler syndrome, type v9.9COL9A2, COL9A3
34diastrophic dysplasia9.9
35cervicitis9.9
36dwarfism9.9
37osteonecrosis9.8ACAN, COL9A1, COMP, MATN3
38asthma9.7
39tendinopathy9.7
40osteogenesis imperfecta9.7
41cerebritis9.7
42myopathy9.7
43syngnathia cleft palate9.7ACAN, COL9A1, COL9A2, COL9A3
44myopia, x-linked9.6COL9A1, COL9A2, COL9A3, COMP, MATN3
45osteopetrosis9.4ACAN, COL9A1, COL9A2, COL9A3, COMP, MATN3
46intermediate uveitis9.2ACAN, COL9A1, COL9A2, COL9A3, COMP, MATN3
47immunodeficiency 308.9ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Symptoms & Phenotypes for Pseudoachondroplasia

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Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Human phenotypes related to Pseudoachondroplasia:

 54 64 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly64 54 Frequent (79-30%) HP:0000926
2 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
3 gait disturbance64 54 Frequent (79-30%) HP:0001288
4 degenerative joint disease54 Frequent (79-30%)
5 short foot64 54 Frequent (79-30%) HP:0001773
6 scoliosis64 54 Frequent (79-30%) HP:0002650
7 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
8 osteoarthritis64 54 Frequent (79-30%) HP:0002758
9 kyphosis64 54 Occasional (29-5%) HP:0002808
10 arthralgia64 54 Frequent (79-30%) HP:0002829
11 genu valgum64 54 Occasional (29-5%) HP:0002857
12 genu varum64 54 Occasional (29-5%) HP:0002970
13 micromelia64 54 Very frequent (99-80%) HP:0002983
14 abnormality of the hip bone64 54 Very frequent (99-80%) HP:0003272
15 hyperlordosis64 54 Frequent (79-30%) HP:0003307
16 hypoplasia of the odontoid process64 54 Occasional (29-5%) HP:0003311
17 irregular carpal bones64 54 Very frequent (99-80%) HP:0004236
18 short palm64 54 Very frequent (99-80%) HP:0004279
19 hamartomatous polyposis64 54 Frequent (79-30%) HP:0004390
20 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
21 abnormality of epiphysis morphology64 54 Very frequent (99-80%) HP:0005930
22 bowing of the long bones54 Very frequent (99-80%)
23 disproportionate short-limb short stature64 54 Very frequent (99-80%) HP:0008873
24 short metacarpal64 54 Very frequent (99-80%) HP:0010049
25 intestinal polyposis64 54 Frequent (79-30%) HP:0200008
26 sensory neuropathy64 HP:0000763
27 brachydactyly syndrome64 HP:0001156
28 limited elbow extension64 HP:0001377
29 joint laxity64 HP:0001388
30 carpal bone hypoplasia64 HP:0001498
31 cervical cord compression64 HP:0002341
32 waddling gait64 HP:0002515
33 delayed epiphyseal ossification64 HP:0002663
34 genu recurvatum64 HP:0002816
35 flared femoral metaphysis64 HP:0002834
36 lumbar hyperlordosis64 HP:0002938
37 short long bone64 HP:0003026
38 ulnar deviation of the wrist64 HP:0003049
39 limited hip extension64 HP:0003093
40 atlantoaxial dislocation64 HP:0003414
41 radial metaphyseal irregularity64 HP:0004019
42 ulnar metaphyseal irregularity64 HP:0004042
43 beaking of vertebral bodies64 HP:0004568
44 fragmented, irregular epiphyses64 HP:0005063
45 ulnar deviation of the hand64 HP:0009487
46 short distal phalanx of finger64 HP:0009882
47 small epiphyses of the phalanges of the hand64 HP:0010236
48 irregular epiphyses64 HP:0010582
49 childhood onset short-limb short stature64 HP:0011405
50 spatulate ribs64 HP:0012307
51 fragmented epiphyses64 HP:0100168

UMLS symptoms related to Pseudoachondroplasia:


joint laxity, ulnar deviation of the wrist, waddling gait

GenomeRNAi Phenotypes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00053-A8.9COL9A1, COL9A2, COL9A3, COMP, DCN

MGI Mouse Phenotypes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9COL9A1, COL9A2, COMP, MATN3, SLC26A2
2MP:00053907.7COL9A1, COL9A2, COMP, DCN, MATN3, SLC26A2

Drugs & Therapeutics for Pseudoachondroplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome27
2 Pseudoachondroplasia24 COMP

Anatomical Context for Pseudoachondroplasia

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MalaCards organs/tissues related to Pseudoachondroplasia:

36
Bone

Publications for Pseudoachondroplasia

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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Novel therapeutic interventions for pseudoachondroplasia. (28336490)
2017
2
Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation. (28044000)
2017
3
Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia. (27299778)
2016
4
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. (27330822)
2016
5
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. (27432013)
2016
6
Pseudoachondroplasia and painful sequelae. (26177939)
2015
7
Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. (25859006)
2015
8
Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia. (24558358)
2014
9
Pseudoachondroplasia/COMP - translating from the bench to the bedside. (24892720)
2014
10
Pseudoachondroplasia: a case report. (24364233)
2013
11
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. (24194321)
2013
12
Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child]. (24229584)
2013
13
A novel COMP mutation in a Chinese patient with pseudoachondroplasia. (23562786)
2013
14
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. (21922596)
2012
15
Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. (22426567)
2012
16
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. (22154935)
2012
17
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. (22006726)
2012
18
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (21644213)
2011
19
Difficult to control asthma in the patient with pseudoachondroplasia. (22675014)
2011
20
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. (21599986)
2011
21
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype. (21042783)
2010
22
Ilizarov treatment for extreme bilateral genu recurvatum in a pseudoachondroplasia patient: a case report. (20306977)
2010
23
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (20830670)
2010
24
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (20819661)
2010
25
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. (19808781)
2010
26
Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia. (19320037)
2009
27
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. (19762713)
2009
28
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. (18546327)
2008
29
Pseudoachondroplasia: A rare cause of rhizomelic dwarfism. (19753240)
2008
30
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. (17200202)
2007
31
Upper cervical spine instability in pseudoachondroplasia. (17878785)
2007
32
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. (17579668)
2007
33
Deformity correction with external fixator in pseudoachondroplasia. (16957646)
2007
34
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. (17588960)
2007
35
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. (16928687)
2006
36
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. (16286662)
2006
37
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. (16514635)
2006
38
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
39
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. (15880723)
2005
40
A disorder resembling pseudoachondroplasia but without COMP mutation. (15551305)
2005
41
Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia. (15523619)
2005
42
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). (14580238)
2004
43
Mesomelic dwarfism in pseudoachondroplasia. (15552564)
2004
44
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. (15266613)
2004
45
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. (15183431)
2004
46
Role of TSP-5/COMP in pseudoachondroplasia. (15094116)
2004
47
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304)
2003
48
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. (12792737)
2003
49
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (12768438)
2003
50
Apoptosis staining in cultured pseudoachondroplasia chondrocytes. (12766479)
2003

Variations for Pseudoachondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

70 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616rs137852653
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632rs137852651
9COMPp.Asp472TyrVAR_007634rs137852650
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641rs312262900
14COMPp.Thr585ArgVAR_007642rs312262900
15COMPp.Cys348ArgVAR_017102rs137852656
16COMPp.Gly719AspVAR_017103rs137852655
17COMPp.Pro234SerVAR_066790rs557483957
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825rs312262903
30COMPp.Gly719SerVAR_066828rs312262904

Clinvar genetic disease variations for Pseudoachondroplasia:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1COMPCOMP, 3-BP DEL, (GAC)2deletionPathogenic
2COMPNM_ 000095.2(COMP): c.1417_ 1419delGAC (p.Asp473del)deletionPathogenicrs312262897GRCh37Chr 19, 18896845: 18896847
3COMPNM_ 000095.2(COMP): c.1586C> T (p.Thr529Ile)SNVPathogenicrs312262903GRCh37Chr 19, 18896565: 18896565
4COMPNM_ 000095.2: c.1679A> GSNVPathogenic
5COMPNM_ 000095.2(COMP): c.1747G> A (p.Glu583Lys)SNVPathogenicrs312262899GRCh37Chr 19, 18895873: 18895873
6COMPNM_ 000095.2(COMP): c.1754C> A (p.Thr585Lys)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_ 000095.2(COMP): c.1754C> G (p.Thr585Arg)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
8COMPNM_ 000095.2(COMP): c.1754C> T (p.Thr585Met)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
9COMPNM_ 000095.2(COMP): c.1760A> G (p.His587Arg)SNVPathogenic/ Likely pathogenicrs312262901GRCh37Chr 19, 18895860: 18895860
10COMPNM_ 000095.2(COMP): c.2155G> A (p.Gly719Ser)SNVPathogenicrs312262904GRCh37Chr 19, 18893936: 18893936
11COMPNM_ 000095.2(COMP): c.1414G> T (p.Asp472Tyr)SNVPathogenicrs137852650GRCh37Chr 19, 18896850: 18896850
12COMPNM_ 000095.2(COMP): c.1403G> A (p.Cys468Tyr)SNVPathogenicrs137852651GRCh37Chr 19, 18896861: 18896861
13COMPCOMP, 3-BP DEL, 459TCA, SER459DELdeletionPathogenic
14COMPCOMP, 3-BP DEL, (GAC)4deletionPathogenic
15COMPNM_ 000095.2(COMP): c.982T> C (p.Cys328Arg)SNVPathogenicrs137852653GRCh37Chr 19, 18898453: 18898453
16COMPNM_ 000095.2(COMP): c.1405_ 1407GAC[7] (p.Asp473_ Asn474insAspAsp)NT expansionPathogenicGRCh37Chr 19, 18896845: 18896847
17COMPNM_ 000095.2(COMP): c.1417_ 1419dupGAC (p.Asp473_ Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
18COMPNM_ 000095.2(COMP): c.2156G> A (p.Gly719Asp)SNVPathogenicrs137852655GRCh37Chr 19, 18893935: 18893935
19COMPNM_ 000095.2(COMP): c.1042T> C (p.Cys348Arg)SNVPathogenicrs137852656GRCh37Chr 19, 18898393: 18898393
20COMPCOMP, EX9DELdeletionPathogenic

Expression for genes affiliated with Pseudoachondroplasia

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Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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GO Terms for genes affiliated with Pseudoachondroplasia

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Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.8COL9A1, COL9A2, COL9A3
2collagen type IX trimerGO:00055949.8COL9A1, COL9A2, COL9A3
3lysosomal lumenGO:00432029.8ACAN, DCN
4extracellular matrixGO:00310129.5ACAN, COMP, DCN
5endoplasmic reticulum lumenGO:00057889.4COL9A1, COL9A2, COL9A3, MATN3
6extracellular regionGO:00055767.6ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN
7proteinaceous extracellular matrixGO:00055786.9ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:00226179.8ACAN, DCN
2animal organ morphogenesisGO:00098879.6COL9A1, COMP, DCN
3skeletal system developmentGO:00015018.5ACAN, COL9A2, COMP, MATN3
4extracellular matrix organizationGO:00301987.5ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN

Molecular functions related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:000551810.1COMP, DCN
2extracellular matrix structural constituentGO:00052019.1ACAN, COMP, MATN3
3extracellular matrix structural constituent conferring tensile strengthGO:00300209.0COL9A1, COL9A2, COL9A3

Sources for Pseudoachondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet